Article
An epilepsy-causing mutation leads to co-translational misfolding of the Kv7.2 channel.
BMC biology - 21 May 2021
Urrutia Janire, Aguado Alejandra, Gomis-Perez Carolina, Muguruza-Montero Arantza, Ballesteros Oscar R, Zhang Jiaren, Nuñez Eider, Malo Covadonga, Chung Hee Jung, Leonardo Aritz, Bergara Aitor, Villarroel Alvaro
Abstract excerpt
BACKGROUND: The amino acid sequence of proteins generally carries all the necessary information for acquisition of native conformations, but the vectorial nature of translation can additionally determine the folding outcome. Such consideration is particularly relevant in human diseases associated to inherited mutations leading to structural instability, aggregation, and degradation. Mutations in the KCNQ2 gene...
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